Ocular coloboma
Gene: CC2D2A
CC2D2A (coiled-coil and C2 domain containing 2A)
EnsemblGeneIds (GRCh38): ENSG00000048342
EnsemblGeneIds (GRCh37): ENSG00000048342
OMIM: 612013, Gene2Phenotype
CC2D2A is in 28 panels
EnsemblGeneIds (GRCh38): ENSG00000048342
EnsemblGeneIds (GRCh37): ENSG00000048342
OMIM: 612013, Gene2Phenotype
CC2D2A is in 28 panels
3 reviews
Alice Gardham (Genomics England)
coloboma seen in around 40% of individuals with COACH syndromeCreated: 17 Nov 2016, 2:09 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COACH syndrome, 216360
Publications
Penny Clouston (Oxford)
Positives within our diagnostic patient cohort. Evidence in literature.Created: 15 Mar 2016, 10:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Relevant phenotype and mode of inheritance was sourced from OMIM.Created: 8 Jan 2016, 11:36 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- COACH syndrome, 216360
- OMIM
- 612013
- Clinvar variants
- Variants in CC2D2A
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- VACTERL-like phenotypes
- Ophthalmological ciliopathies
- Cholestasis
- Skeletal dysplasia
- Renal ciliopathies
- Neurological ciliopathies
- Early onset or syndromic epilepsy
- COVID-19 research
- Ocular coloboma
- Polycystic liver disease
- Hydrocephalus
- Familial Neural Tube Defects
- Unexplained kidney failure in young people
- Ductal plate malformation
- Rare multisystem ciliopathy disorders
- Fetal anomalies
- Dystonia, chorea or related movement disorder, childhood onset
- Structural eye disease
- Intellectual disability
- DDG2P
- Neonatal cholestasis
- Glaucoma (developmental)
- Clefting
- Thoracic dystrophies
- Primary ciliary disorders
- Limb disorders
- Cystic kidney disease
- Retinal disorders
History Filter Activity
6 Feb 2017, Gel status: 4
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 6th February 2016 by Alice Gardham
17 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
17 Nov 2016, Gel status: 4
Added New Source
Alice Gardham (Genomics England)CC2D2A was added to Ocular colobomapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
17 Nov 2016, Gel status: 0
Created
Alice Gardham (Genomics England)CC2D2A was created by agardham